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    TIMM29 translocase of inner mitochondrial membrane 29 [ Homo sapiens (human) ]

    Gene ID: 90580, updated on 7-Apr-2024

    Summary

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    Official Symbol
    TIMM29provided by HGNC
    Official Full Name
    translocase of inner mitochondrial membrane 29provided by HGNC
    Primary source
    HGNC:HGNC:25152
    See related
    Ensembl:ENSG00000142444 MIM:617380; AllianceGenome:HGNC:25152
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TIM29; C19orf52
    Summary
    Enables protein transporter activity. Involved in protein insertion into mitochondrial inner membrane. Located in mitochondrial inner membrane and mitochondrial intermembrane space. Part of TIM22 mitochondrial import inner membrane insertion complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney (RPKM 4.3), testis (RPKM 4.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TIMM29 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10928811..10930254)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11055822..11057265)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11039487..11040930)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene chromosome 19 open reading frame 38 Neighboring gene HIKESHI pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10973529-10974377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13997 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10984976-10985476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10985477-10985977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13999 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10989664-10990506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10991348-10992190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10992191-10993032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10993033-10993874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10993875-10994715 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11004683-11005484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11009921-11010538 Neighboring gene coactivator associated arginine methyltransferase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11015702-11015889 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11031708-11031887 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11037946-11038648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11038649-11039349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10096 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11046750-11047081 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:11048011-11048510 Neighboring gene Yip1 domain family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10097 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14001 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11087822-11088514 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11120526-11121026 Neighboring gene RNA, 7SL, cytoplasmic 192, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11138820-11139320 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11167289-11167788 Neighboring gene LDLR antisense RNA 1 Neighboring gene low density lipoprotein receptor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. TIMM29 interacts with hepatitis B virus preS1 to modulate the HBV life cycle. Muriungi NG, et al. Microbiol Immunol, 2020 Dec. PMID 32970362
    2. Defining the architecture of the human TIM22 complex by chemical crosslinking. Valpadashi A, et al. FEBS Lett, 2021 Jan. PMID 33125709
    3. TIM29 is a subunit of the human carrier translocase required for protein transport. Callegari S, et al. FEBS Lett, 2016 Dec. PMID 27718247, Free PMC Article
    4. Tim29 is a novel subunit of the human TIM22 translocase and is involved in complex assembly and stability. Kang Y, et al. Elife, 2016 Aug 24. PMID 27554484, Free PMC Article
    5. Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex. Kang Y, et al. Mol Cell, 2017 Aug 3. PMID 28712726

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TIM22 and TIM29 inhibit HBV replication by up-regulating SRSF1 expression.
      Title: TIM22 and TIM29 inhibit HBV replication by up-regulating SRSF1 expression.
    2. Defining the architecture of the human TIM22 complex by chemical crosslinking.
      Title: Defining the architecture of the human TIM22 complex by chemical crosslinking.
    3. TIMM29 interacts with hepatitis B virus preS1 to modulate the HBV life cycle.
      Title: TIMM29 interacts with hepatitis B virus preS1 to modulate the HBV life cycle.
    4. Here, the authors identify Tim29 (C19orf52) as a novel, metazoan-specific subunit of the human TIM22 complex. The protein is integrated into the mitochondrial inner membrane with it's C-terminus exposed to the intermembrane space.
      Title: Tim29 is a novel subunit of the human TIM22 translocase and is involved in complex assembly and stability.
    5. TIM29 is required for the structural integrity of the TIM22 complex and for import of substrate proteins by the carrier translocase
      Title: TIM29 is a subunit of the human carrier translocase required for protein transport.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein insertion into mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein insertion into mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein insertion into mitochondrial inner membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of TIM22 mitochondrial import inner membrane insertion complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of TIM22 mitochondrial import inner membrane insertion complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of TIM22 mitochondrial import inner membrane insertion complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mitochondrial import inner membrane translocase subunit Tim29
    Names
    uncharacterized protein C19orf52

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_138358.4 → NP_612367.1  mitochondrial import inner membrane translocase subunit Tim29

      See identical proteins and their annotated locations for NP_612367.1

      Status: VALIDATED

      Source sequence(s)
      AC011442
      Consensus CDS
      CCDS12252.1
      UniProtKB/Swiss-Prot
      Q96EY6, Q96IT8, Q9BSF4
      Related
      ENSP00000270502.5, ENST00000270502.7
      Conserved Domains (1) summary
      pfam10171
      Location:24 → 186
      Tim29; Translocase of the Inner Mitochondrial membrane 29

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      10928811..10930254
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      11055822..11057265
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSF4.2 GenPept UniProtKB/Swiss-Prot:Q9BSF4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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